Stanford Health Now

Deadly Heart Condition Yields to Screening and Prompt Treatment

01.01.2010

James Cooper has had to give up the vigorous athletic conditioning that once filled his life, but his enthusiasm for life and his future is undiminished.

High school senior James Cooper and his mother laughed at first when,
in the middle of a sports physical, the examiner mentioned that the
young man's arm span was suggestive of Marfan syndrome, a connective
tissue disease that can seriously affect the heart. Cooper was
otherwise in the peak of youthful fitness, working out four to five
hours a day and playing several competitive sports.

"But a couple of weeks later my mom said, 'Maybe we should get
you checked out, just to be safe,'" Cooper said. This exam, with
a cardiac specialist, included an ECG, an non-invasive test that can
identify potentially dangerous heart conditions by measuring the
heart's electrical activity. When his mother, a former U.S. Navy
medic, saw the look of that ECG and the physician's scrutiny of it,
she knew something was wrong. "That's when my heart
dropped," she said. Cooper did not have Marfan's, but the
specialist was fairly certain he did have a genetic heart condition
called hypertrophic cardiomyopathy, sometimes shorthanded as HCM.

"From the moment we first met Dr. Ashley at Stanford," said
Paulette Cooper, "I felt we were sitting in a room with a doctor
who really cared – a really gentle person, a really caring person who
was not rushing us through, not treating us like he had a waiting room
full of other people he had to see. His staff was amazing, too. I felt
we were in a really good place."

Ashley, himself an athlete as a youth, developed an early clinical
and research interest in heart health, including that specific to the
kind of activity athletes ask of their bodies.

"I've always been fascinated by the heart as an organ," he
said. "It's a phenomenal thing that can power Olympic athletes
but holds an 80-year-old woman to her chair, not able to walk."

He suspected Cooper had HCM, but also thought some of the behavior
of Cooper's heart might be the result of his heavy athletic training,
so he ordered the young man to take a break.

That enforced inactivity was a major blow to Cooper. Sitting on the
bench and watching his classmates playing team sports was the complete
opposite of a path he had followed since he was six years old and ran
his first 10k. "I wasn't feeling too good about myself," he said.

As such a change might affect any young athlete, "that just
about took the rug out from under him," said Cooper's mother.
"This was a kid who worked out four to five hours a day, without
a coach. It was hard for him just to suddenly stop. Everybody's
saying, 'I'm sure you're fine,' and James is sitting there saying, 'I
hope so, but there's something happening.'"

"I felt we were in a a really good place," said Paulette Cooper, James' mother, of Stanford Hospital's HCM clinic.

Recognizing the Unusual

Stanford's center is a place where hypertrophic cardiomyopathy is
understood as a condition that can be found, as it was in Cooper, in
the most athletic of patients. It is caused by genetic mutations that
change the structure of the heart's muscle cells, thickening them and
disrupting the flow and force of blood through its chambers. It is the
most common cause of sudden death in young people and the most common
form of inherited cardiovascular disease.

Cooper's mother knew her grandmother had been in and out of the
hospital, treated for congestive heart failure. And there had been
others in the family who had died young, stricken with sudden heart
attacks. But she had had no clue that that history might be reflected
in her son's heart health.

Each week, Euan Ashley, MD, sees several new patients coming in for treatment of HCM.

From the moment we first met Dr. Ashley at Stanford, I felt we were sitting in a room with a doctor who really cared - a really gentle person, a really caring person.

James stays busy with school, work and sings in a church choir with his fiancee, Breanna.

Often, the symptoms HCM – chest pain, fainting, palpitations – can be
misdiagnosed. Genetic testing is still evolving, but only at a few
places, like Stanford, is it available.

The center has had long experience with the surgery sometimes
performed to counteract the obstruction to blood flow caused by the
condition. Few surgeons specialize in that surgery, Ashley said. It
calls for judgment and experience. "You might only make a small
number of cuts, but they make a very big difference," he said.

Even after cutting back on his strenuous physical workouts, Cooper's
heart still showed the disturbing abnormalities and Ashley presented
Cooper with his choices. "He said I could continue living my life
as I had before and have the possibility of suddenly dropping dead.
Or, I could get a defibrillator or we could talk about medications
like beta blockers."

The Next Steps

Cooper chose the defibrillator. Compared to his pre-diagnosis
lifestyle, his physical activity now is quite restricted – he's not
allowed to push his body in ways that significantly raise his heart
rate. That means no marathons. And no more competitive sports. But
Cooper's personality fights against the restrictions.

People with this heart condition face "something they’re going
to be dealing with for the rest of their life," said Heidi
Salisbury, a nurse who has worked with Ashley at the center for
several years. "We encourage our patients to learn as much as
possible about their condition, to make the necessary changes in
behavior and lifestyle and then to live a high quality of life."

I've been living with it for a while now. It's not something I dwell on. I'm in a good place now. It's not something I fear.

Cooper is both the worst and best case scenario, she said. "He
epitomizes a young man, playing basketball, who could have died of
cardiac arrest. He had no idea he had this disease or the severity of
the disease. He had a higher chance of death than others. But he was a save."

WHAT TO KNOW ABOUT HYPERTROPHIC CARDIOMYOPATHY

Hypertrophic Cardiomyopathy is a disease of the heart muscle which causes certain areas to enlarge and obstruct blood flow. Typically, it's inherited and can affect both children and adults.

Symptoms don't always appear in the early stages of the disease, but later can include dizziness, shortness of breath, fatigue and swelling of legs, ankles and feet.

Treatments include medication to alter how the heart muscle acts, surgery to remove a portion of the thickened heart muscle or implantation of a defibrillator, which starts the heart if it stops.

Anyone with a family history of unexplained early cardiac death should think about screening and genetic testing.

Euan Ashley, MD, recommends that young athletes be evaluated by a physician before they begin to do sports. Adults with family history of heart issues should see a physician to address their risk factors. The disease can show itself in adults into their 40s and 50s.

"I've been living with it for awhile now, it's not something I
dwell on," Cooper said. "I'm in a good place now. It’s not
something I fear."

"For a long time, I went through a lot of difficult
feelings," said his mother. "On one side, I thought, 'This
isn't fair. Here's a kid who wanted to be a firefighter since he was
four years old – why does it have to be this? If this was a kid who
played videogames all day, it wouldn't have had the impact. On the
other side - thank God we found out. I thought of all the families who
have no idea and sudden death is how they realized that their son or
daughter had this condition."

"James has gone through some hard times, being angry and
disappointed. It's been hard for him, but once he had the
defibrillator put in, his goal was to help other people like him. He
wanted to reach out and talk to others and help them."

Cooper took part in last year's Stanford HCM Patient Day. He ran on
a treadmill in front of the 75 attendees, demonstrating the importance
of remaining active while exercising within the necessary
restrictions. His internal defibrillator, about the diameter of a can
of shoe polish, was visible below the surface of his skin. "That
visual of seeing him run was really inspiring to the audience,"
Ashley said.

CARE AT STANFORD

With compassion and communication, we specialize in the care of patients and families with hypertrophic cardiomyopathy (HCM) and other related conditions.
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